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Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy

Kim SH, Seo J, Kwon SS, Teng LY, Won D, Shin S, et al.

Epilepsia, 2024 Mar;65(3):766-778.
PMID: 38073125 DOI: 10.1111/epi.17857

OBJECTIVE: We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and subgroups.
METHODS: Patients with unexplained pediatric-onset epilepsy were identified from the in-house Severance Neurodevelopmental Disorders and Epilepsy Database. All patients underwent either exome sequencing or multigene panels from January 2017 to December 2019, at Severance Children's Hospital in Korea. Clinical data were extracted from the medical records.
RESULTS: Of the 957 patients studied, 947 (99.0%) were Korean and 570 were male (59.6%). The median age at testing was 4.91 years (interquartile range, 1.53-9.39). The overall diagnostic yield was 32.4% (310/957). Clinical exome sequencing yielded a diagnostic rate of 36.9% (134/363), whereas the epilepsy panel yielded a diagnostic rate of 29.9% (170/569). Diagnostic yield differed across epilepsy syndromes. It was high in Dravet syndrome (87.2%, 41/47) and early infantile developmental epileptic encephalopathy (60.7%, 17/28), but low in West syndrome (21.8%, 34/156) and myoclonic-atonic epilepsy (4.8%, 1/21). The most frequently implicated genes were SCN1A (n = 49), STXBP1 (n = 15), SCN2A (n = 14), KCNQ2 (n = 13), CDKL5 (n = 11), CHD2 (n = 9), SLC2A1 (n = 9), PCDH19 (n = 8), MECP2 (n = 6), SCN8A (n = 6), and PRRT2 (n = 5). The recurrent genetic abnormalities included 15q11.2 deletion/duplication (n = 9), Xq28 duplication (n = 5), PRRT2 deletion (n = 4), MECP2 duplication (n = 3), SCN1A, c.2556+3A>T (n = 3), and 2q24.3 deletion (n = 3).
SIGNIFICANCE: Here we present the results of a large-scale study conducted in East Asia, where we identified several common genes and recurrent variants that varied depending on specific epilepsy syndromes. The overall genetic landscape of the Asian population aligns with findings from other populations of varying ethnicities.
Thermocatalytic conversion of wood-plastic composite over HZSM-5 catalysts

Seo J, Kim H, Jeon S, Valizadeh S, Khani Y, Jeon BH, et al.

Bioresour Technol, 2023 Apr;373:128702.
PMID: 36740100 DOI: 10.1016/j.biortech.2023.128702

Air gasification of the Wood-Plastic Composite (WPC) was performed over Ni-loaded HZSM-5 catalysts to generate H2-rich gas. Increasing SiO2/Al2O3 ratio (SAR) of HZSM-5 adversely affected catalytic activity, where the highest gas yield (51.38 wt%) and H2 selectivity (27.01 vol%) were acquired using 20 %Ni/HZSM-5(30) than those produced over 20 %Ni/HZSM-5(80) and 20 %Ni/HZSM-5(280). Reducing SAR was also favorably conducive to increasing the acyclic at the expense of cyclic compounds in oil products. These phenomena are attributed to enhanced acid strength and Ni dispersion of 20 %Ni/HZSM-5(30) catalyst. Moreover, catalytic activity in the terms of gas yield and H2 selectivity enhanced with growing Ni loading to 20 %. Also, the addition of promoters (Cu and Ca) to 20 %Ni/HZSM-5(30) boosted the catalytic efficiency for H2-rich gas generation. Raising temperature indicated a positive relevance with the gas yield and H2 selectivity. WPC valorization via gasification technology would be an outstanding outlook in the terms of a waste-to-energy platform.
Fulltext REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer's Disease

Meyer K, Feldman HM, Lu T, Drake D, Lim ET, Ling KH, et al.

Cell Rep, 2019 01 29;26(5):1112-1127.e9.
PMID: 30699343 DOI: 10.1016/j.celrep.2019.01.023

The molecular basis of the earliest neuronal changes that lead to Alzheimer's disease (AD) is unclear. Here, we analyze neural cells derived from sporadic AD (SAD), APOE4 gene-edited and control induced pluripotent stem cells (iPSCs). We observe major differences in iPSC-derived neural progenitor (NP) cells and neurons in gene networks related to neuronal differentiation, neurogenesis, and synaptic transmission. The iPSC-derived neural cells from SAD patients exhibit accelerated neural differentiation and reduced progenitor cell renewal. Moreover, a similar phenotype appears in NP cells and cerebral organoids derived from APOE4 iPSCs. Impaired function of the transcriptional repressor REST is strongly implicated in the altered transcriptome and differentiation state. SAD and APOE4 expression result in reduced REST nuclear translocation and chromatin binding, and disruption of the nuclear lamina. Thus, dysregulation of neural gene networks may set in motion the pathologic cascade that leads to AD.
Identification of chronic obstructive pulmonary disease subgroups in 13 Asian cities

Kim WJ, Gupta V, Nishimura M, Makita H, Idolor L, Roa C, et al.

Int J Tuberc Lung Dis, 2018 07 01;22(7):820-826.
PMID: 29914609 DOI: 10.5588/ijtld.17.0524

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a heterogeneous condition that can differ in its clinical manifestation, structural changes and response to treatment.
OBJECTIVE: To identify subgroups of COPD with distinct phenotypes, evaluate the distribution of phenotypes in four related regions and calculate the 1-year change in lung function and quality of life according to subgroup.
METHODS: Using clinical characteristics, we performed factor analysis and hierarchical cluster analysis in a cohort of 1676 COPD patients from 13 Asian cities. We compared the 1-year change in forced expiratory volume in one second (FEV1), modified Medical Research Council dyspnoea scale score, St George's Respiratory Questionnaire (SGRQ) score and exacerbations according to subgroup derived from cluster analysis.
RESULTS: Factor analysis revealed that body mass index, Charlson comorbidity index, SGRQ total score and FEV1 were principal factors. Using these four factors, cluster analysis identified three distinct subgroups with differing disease severity and symptoms. Among the three subgroups, patients in subgroup 2 (severe disease and more symptoms) had the most frequent exacerbations, most rapid FEV1 decline and greatest decline in SGRQ total score.
CONCLUSION: Three subgroups with differing severities and symptoms were identified in Asian COPD subjects.